A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620983



Internal ID15473647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132092623..132165751hg38UCSC Ensembl
Outerchr12:132577168..132650296hg19UCSC Ensembl
Outerchr12:131143121..131216249hg18UCSC Ensembl
Outerchr12:131243398..131316526hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg388510
hg198510
hg188510
hg178510
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509493
Supporting Variants
SamplesNA15510
Known GenesDDX51, EP400NL, NOC4L
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv620983
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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